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Sickle Cell Anemia


Sickle Cell Anemia or "HbSS" disease is a genetic disorder gained through inheritance with a malfunction in the DNA sequence. Sickle cell is seen in the United States in 1-5,000 citizens, particularly African Americans. Complications arise when red blood cells or hemoglobin is mis-shaped causing complications in bodily functions on both the genetic and physical level, resulting in shortened life expectancies for bHBBmutseq_2.gifoth males and females.

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History and Studies:


Sickle Cell Anemia's complications can be traced back for centuries but the actual name and classification did not come until 1922 by Vernon Mason.
Studies are currently being performed at many universities including the University of Minnesota in Minneapolis which has recently detected that mice who suffer from Sickle Cell Anemia have elevated levels of heme oxygenase-1 and that drugs which help to stimulate the activity of heme-oxygenase may be a new way to treat the disease.

Mutation:


Sickle Cell Anemia derives during embryological development through the malfunction a specific gene. Hemoglobin, the protein responsible for the delivery of oxygen throughout the body is known as HBs. When an adenine is replaced by a thymine in meitosis a change in the chrom osome occurs. The codon for the amino acide valine takes the place of hydrophilic glutamic acid at the 6th position on the chromosome causing typical hemoglobin to be replaced with the new beta globin or HBB.

The new "beta globin" takes the shape of a sickle or pointed half moon oppose to hemoglobin, a much rounder more pliable figure. This new shape prohibits the transfer of oxygen throughout the body resulting in a wide variety of complications
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Problems:


- Vaso-occlusive crisis-sickle shaped cells obstruct capillaries restricting blood flow often causing pain and organ damage.
- Infarct male genitalia-an increased blood flow to the genitalia causing an excessive erection.
- Pulmonary Hypertension- straining of the heart's right ventricle; possibly resulting in heart failure
- Acute Chest Crisis- fever, cough, shortness of breath and sharp pains of the chest.

Treatment:


- Dietary Cyante: eating an abundance of foods containing cyanide derivatives has been applied to treating Sickle Cell Anemia.
- Folic Acid and Penicillin: taking a 1mg dose of Folic acid as well as penicillin a day to assist a poor immune system.
- Hydroxurea: (First approved drug for treatment of Sickle Cell) - shown to decrease severity of acute chest crisis attacks and increase survival time of

Resources:


http://en.wikipedia.org/wiki/Sickle-cell_disease
http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml
http://kidshealth.org/teen/diseases_conditions/genetic/sickle_cell_anemia.html